Incidental Mutation 'IGL01320:Crnn'
ID74014
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Crnn
Ensembl Gene ENSMUSG00000078657
Gene Namecornulin
SynonymsLOC381457
Accession Numbers
Is this an essential gene? Probably non essential (E-score: 0.053) question?
Stock #IGL01320
Quality Score
Status
Chromosome3
Chromosomal Location93144787-93149819 bp(+) (GRCm38)
Type of Mutationmissense
DNA Base Change (assembly) T to C at 93148212 bp
ZygosityHeterozygous
Amino Acid Change Serine to Proline at position 102 (S102P)
Ref Sequence ENSEMBL: ENSMUSP00000141980 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000107300] [ENSMUST00000195515]
Predicted Effect probably damaging
Transcript: ENSMUST00000107300
AA Change: S102P

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
SMART Domains Protein: ENSMUSP00000102921
Gene: ENSMUSG00000078657
AA Change: S102P

DomainStartEndE-ValueType
Pfam:S_100 4 45 1.9e-12 PFAM
Blast:EFh 53 81 1e-10 BLAST
low complexity region 181 192 N/A INTRINSIC
Predicted Effect unknown
Transcript: ENSMUST00000192372
AA Change: S1P
Predicted Effect noncoding transcript
Transcript: ENSMUST00000192830
Predicted Effect probably damaging
Transcript: ENSMUST00000195515
AA Change: S102P

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
SMART Domains Protein: ENSMUSP00000141980
Gene: ENSMUSG00000078657
AA Change: S102P

DomainStartEndE-ValueType
Pfam:S_100 4 47 1.2e-10 PFAM
Blast:EFh 53 81 1e-10 BLAST
low complexity region 181 192 N/A INTRINSIC
Coding Region Coverage
Validation Efficiency
MGI Phenotype FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] This gene encodes a member of the "fused gene" family of proteins, which contain N-terminus EF-hand domains and multiple tandem peptide repeats. The encoded protein contains two EF-hand Ca2+ binding domains in its N-terminus and two glutamine- and threonine-rich 60 amino acid repeats in its C-terminus. This gene, also known as squamous epithelial heat shock protein 53, may play a role in the mucosal/epithelial immune response and epidermal differentiation. [provided by RefSeq, Jan 2009]
Allele List at MGI
Other mutations in this stock
Total: 33 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
A2ml1 T C 6: 128,575,588 E229G probably benign Het
Abca16 T A 7: 120,439,199 L368Q probably damaging Het
Ankrd17 A T 5: 90,260,129 S1410T probably damaging Het
Arntl T C 7: 113,303,407 I421T probably damaging Het
Asb8 A G 15: 98,141,278 probably benign Het
Chrdl2 A G 7: 100,017,041 Y56C probably damaging Het
Cyb5a T C 18: 84,879,523 I115T probably damaging Het
Daw1 T C 1: 83,198,180 I213T possibly damaging Het
Dcp1b T A 6: 119,215,075 S317R probably benign Het
Dnah7a T C 1: 53,434,046 M3474V probably benign Het
E2f7 G A 10: 110,754,093 V36I probably benign Het
Esrp1 A G 4: 11,384,374 I103T possibly damaging Het
Hap1 G A 11: 100,349,380 T530I probably damaging Het
Hps3 T C 3: 20,030,469 N185S probably benign Het
Klra1 T A 6: 130,364,261 I250F probably benign Het
Lipn A G 19: 34,084,640 T332A probably benign Het
Ltbp4 A G 7: 27,328,359 probably benign Het
Ncor2 A G 5: 125,109,927 V11A probably benign Het
Nipsnap2 C T 5: 129,744,764 T108M probably damaging Het
Olfr153 T A 2: 87,532,285 M84K probably benign Het
Olfr479 A G 7: 108,054,981 probably benign Het
Ppid A G 3: 79,595,277 E46G probably damaging Het
Rrp12 A G 19: 41,877,936 L626P probably damaging Het
Slc6a15 A T 10: 103,404,745 I410F probably benign Het
Sorcs1 A G 19: 50,288,079 probably benign Het
Src G A 2: 157,469,503 G461R probably damaging Het
St8sia5 A T 18: 77,254,622 T307S probably damaging Het
Stac2 T C 11: 98,040,095 probably null Het
Tiam2 T C 17: 3,505,745 L77P probably damaging Het
Tmem87b G T 2: 128,831,216 G190V probably damaging Het
Trav7-6 T C 14: 53,717,108 S32P possibly damaging Het
Unc45b A G 11: 82,912,393 probably null Het
Wnt1 C A 15: 98,792,523 D244E possibly damaging Het
Other mutations in Crnn
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL01343:Crnn APN 3 93148326 missense probably benign 0.01
IGL02393:Crnn APN 3 93149368 missense probably damaging 0.99
IGL03220:Crnn APN 3 93149367 missense possibly damaging 0.49
IGL03275:Crnn APN 3 93149418 missense possibly damaging 0.57
R1698:Crnn UTSW 3 93148458 missense probably damaging 0.97
R1745:Crnn UTSW 3 93146891 missense probably benign 0.33
R1761:Crnn UTSW 3 93148651 missense probably benign
R1974:Crnn UTSW 3 93149287 missense probably benign 0.01
R2109:Crnn UTSW 3 93148440 missense probably benign 0.43
R4179:Crnn UTSW 3 93146813 start codon destroyed probably null 1.00
R4976:Crnn UTSW 3 93148683 missense probably benign 0.12
R5120:Crnn UTSW 3 93148896 missense probably benign 0.03
R5425:Crnn UTSW 3 93149149 missense probably benign
R5695:Crnn UTSW 3 93149023 missense probably damaging 0.98
R6596:Crnn UTSW 3 93146875 missense probably damaging 1.00
R6981:Crnn UTSW 3 93148135 missense probably damaging 1.00
R7145:Crnn UTSW 3 93148382 missense probably damaging 1.00
R7170:Crnn UTSW 3 93148713 missense possibly damaging 0.85
R7365:Crnn UTSW 3 93148534 missense probably damaging 0.97
R7375:Crnn UTSW 3 93149145 missense possibly damaging 0.87
Posted On2013-10-07